Dr.Akshay Kishore , Dr.Suma Balan(Pediatric Rheumatology ), Dr.C.Jayakumar.
Amrita institute of medical sciences.
Thirteen year old male apparently normal till November 2023 had first episode of significant fever accompanied abdominal pain and loose stools for 3 days duration.
No history of vomiting/reduced urine output. There was history of generalised dry skin requiring treatment in the past. Also he gives history of recurrent body pain. He was referred here to Pediatric rheumatology for further evaluation.
Differential diagnosis considered were :
1.Congenital ichthyosis.
2.Myositis
3.Autoimmune cause.
On examination , he had protruded teeth , peri orbital edema , generalised dry skin and bilateral genu valgus.
Systemic examination was within normal limits. ESR – 3mm/hour.
Counts were normal. There was mild transaminitis with elevated CK(556U/L). Complements were normal. DCT was negative.
Urine analysis was normal.
ANA was 2+.
Basic lymphocyte subset analysis was within normal limits.
USG abdomen showed hepatomegaly with mild to moderate fatty infiltration.
Screening echo was normal.
PFT showed mild restriction.
Ophthalmology evaluation was done which was normal.
MRI thigh was done to rule out myositis was normal.
Skin Biopsy was consistent with Ichthyosis.
A possibility of Chanarin – Dorfman’s syndrome was considered and whole exome sequencing was sent which showed the same.
Discussion – Chanarin Dorfman’s syndrome is a rare multisystem disorder which is an autosomal lipid storage disorder characterised accumulation of lipid vacuoles in neutrophils. Due to mutation of ABHD5 gene of short arm of chromosome 3. Approximately only 120 cases have been reported worldwide making it a rare disease. Clinically this disease presents with ichthyosis , hearing loss , cirrhosis , keratopathy , myopathy and mental retardation.
After the diagnosis , a multidisciplinary follow up is essential.
Diet is an important component which should include long chain fatty acid. Ursodeoxycholic acid oral therapy can provide additional support for bringing down the transaminases . Main complication of this syndrome is liver failure and hearing loss
Take home message: we emphasise that in case of different multisystem involvement such as ichthyosis, hearing loss, hepatomegaly , cirrhosis and cataract – physicians should suspect Chanarin dorfman syndrome.